Acute Hepatic Porphyria (AHP)

What is Acute Hepatic Porphyria (AHP)?

Acute Hepatic Porphyria (AHP) is a rare disorder characterized by the deficiency of a liver enzyme (delta-aminolevulinic acid synthase or ALAS), resulting in an accumulation of potentially toxic porphyrin molecules in the body. AHP is a type of porphyria, a group of genetic disorders caused by mutations in the gene responsible for producing heme, an essential component of hemoglobin, the protein in red blood cells that carries oxygen. Because heme plays a crucial role in a variety of metabolic processes, any defect in its production can cause a wide range of abnormalities.

Signs and Symptoms of Acute Hepatic Porphyria (AHP)

The symptoms of AHP vary greatly and can include abdominal pain, vomiting and nausea, diarrhea, constipation, headache, and fatigue. In severe cases of AHP, an individual may experience muscle weakness and paralysis in the extremities, as well as respiratory distress, confusion, mental disturbances, and seizures. Signs of neurological impairment, such as changes in speech or vision, can also occur.

Diagnosis of Acute Hepatic Porphyria (AHP)

AHP is diagnosed through a combination of medical history, physical examination, and laboratory tests. Blood tests, urine tests, and genetic testing may be performed. In some cases, imaging tests such as X-rays, Magnetic Resonance Imaging (MRI), and Computerized Tomography (CT) scans may also be ordered.

Treatment for Acute Hepatic Porphyria (AHP)

The goal of treatment is to reduce the symptoms and complications of AHP. In most cases, a combination of diet modification, lifestyle changes, and medications are used to manage the symptoms. Dietary guidelines typically consist of avoiding large meals, eating smaller and more frequent meals, increasing the consumption of carbohydrates, and avoiding certain foods such as meat, eggs, fish, and legumes.

Medications are usually prescribed to reduce pain and other symptoms associated with AHP. These medications can include anticonvulsants, muscle relaxants, and opiate or non-opiate pain relievers. In severe cases of AHP, intravenous hematin or heme arginate may be administered to reduce the levels of porphyrins in the body.

Prevention of Acute Hepatic Porphyria (AHP)

As AHP is a genetic disorder, it cannot be prevented. However, individuals who are at risk of developing AHP may benefit from:

• Avoiding certain medications, such as barbiturates and other drugs known to trigger AHP episodes.
• Eating a well-balanced, nutritious diet.
• Exercising regularly.
• Limiting exposure to alcohol.
• Seeking treatment promptly for infections, injuries, and other medical conditions.